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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RFFL
ring finger and FYVE like domain containing E3 ubiquitin protein ligase
Chromosome 17 · 17q12
NCBI Gene: 117584Ensembl: ENSG00000092871.18HGNC: HGNC:24821UniProt: Q8WZ73
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi membranelysosomeprotease bindingp53 bindingparoxysmal tachycardiaidiopathic hypereosinophilic syndromehemoglobin H diseasedominant beta-thalassemia
✦AI Summary

RFFL (ring finger and FYVE like domain containing E3 ubiquitin protein ligase) is an endosome-associated E3 ubiquitin ligase that regulates diverse cellular processes through ubiquitin-mediated protein degradation 1. The protein functions as a critical regulator of protein quality control and cellular homeostasis by targeting multiple substrates for proteasomal degradation. RFFL ubiquitinates and degrades the cardiac potassium channel hERG through the ER-associated degradation pathway, thereby regulating cardiac repolarization 2. The ligase also targets mitofusin 2 (MFN2) for ubiquitination, controlling mitochondrial morphology and preventing hyperfused mitochondria 3. Additional validated substrates include JMJD6 and DNAJB11, identified through comprehensive proteomic analysis 4. RFFL plays important roles in endocytic recycling by ubiquitinating Rab11 effectors including EHD1, MICALL1, and Rab11-FIPs, regulating endocytic recycling compartment function 1. In disease contexts, RFFL acts as an oncogenic factor by promoting p53 degradation and is negatively regulated by tumor suppressor miR-133a in colorectal cancer 5. The protein also stabilizes DHX9 by preventing its degradation, promoting breast cancer progression through PI3K/AKT signaling 6. RFFL represents a promising therapeutic target for both cancer treatment and cystic fibrosis, as α-tocopherol succinate can inhibit RFFL-substrate interactions 7.

Sources cited
1
RFFL is an endosome-associated E3 ubiquitin ligase that regulates endocytic recycling by ubiquitinating Rab11 effectors
PMID: 30659120
2
RFFL ubiquitinates and degrades hERG potassium channel through ER-associated degradation pathway, regulating cardiac repolarization
PMID: 30401747
3
RFFL targets mitofusin 2 for ubiquitination and controls mitochondrial morphology
PMID: 40444323
4
JMJD6 and DNAJB11 are validated endogenous substrates of RFFL identified through proteomic analysis
PMID: 40568870
5
RFFL acts as oncogenic factor by promoting p53 degradation and is negatively regulated by miR-133a in colorectal cancer
PMID: 23723074
6
RFFL stabilizes DHX9 by preventing its degradation, promoting breast cancer progression through PI3K/AKT signaling
PMID: 37550275
7
α-tocopherol succinate can inhibit RFFL-substrate interactions, representing a therapeutic approach for cancer and cystic fibrosis
PMID: 37543348
Disease Associationsⓘ20
paroxysmal tachycardiaOpen Targets
0.11Weak
idiopathic hypereosinophilic syndromeOpen Targets
0.04Suggestive
hemoglobin H diseaseOpen Targets
0.03Suggestive
dominant beta-thalassemiaOpen Targets
0.03Suggestive
glycoprotein storage diseaseOpen Targets
0.03Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.03Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.03Suggestive
laterality defects, autosomal dominantOpen Targets
0.03Suggestive
acute erythroleukemiaOpen Targets
0.03Suggestive
erythroleukemia, familial, susceptibility toOpen Targets
0.03Suggestive
cholelithiasisOpen Targets
0.03Suggestive
HeterotaxiaOpen Targets
0.03Suggestive
combined immunodeficiency due to OX40 deficiencyOpen Targets
0.03Suggestive
neuronal ceroid lipofuscinosis 1Open Targets
0.03Suggestive
Hyperlipoproteinemia type 1Open Targets
0.03Suggestive
hereditary neutrophiliaOpen Targets
0.03Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.03Suggestive
hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeOpen Targets
0.03Suggestive
glomerulonephritisOpen Targets
0.03Suggestive
placenta praeviaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UBE2D3Protein interaction77%UXTProtein interaction76%RNF34Protein interaction65%FBXO9Shared pathway30%SPSB3Shared pathway27%UBE2G1Shared pathway27%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
95%
Liver
78%
Lung
40%
Ovary
23%
Heart
22%
Gene Interaction Network
Click a node to explore
RFFLUBE2D3UXTRNF34FBXO9SPSB3UBE2G1
PROTEIN STRUCTURE
Preparing viewer…
PDB1Y02 · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.41Tolerant
Observed/Expected LoF0.40 [0.27–0.61]
RankingsWhere RFFL stands among ~20K protein-coding genes
  • #10,067of 20,598
    Most Researched41
  • #4,290of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedRFFL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Trafficking of the human ether-a-go-go-related gene (hERG) potassium channel is regulated by the ubiquitin ligase rififylin (RFFL).
PMID: 30401747
J Biol Chem · 2019
1.00
2
Endosomal RFFL ubiquitin ligase regulates mitochondrial morphology by targeting mitofusin 2.
PMID: 40444323
J Cell Sci · 2025
0.90
3
Quantitative Proteomic Analysis Reveals JMJD6 and DNAJB11 as Endogenous Substrates of E3 Ligase RFFL.
PMID: 40568870
J Proteome Res · 2025
0.80
4
Identification of α-Tocopherol succinate as an RFFL-substrate interaction inhibitor inducing peripheral CFTR stabilization and apoptosis.
PMID: 37543348
Biochem Pharmacol · 2023
0.70
5
Tumor suppressor functions of miR-133a in colorectal cancer.
PMID: 23723074
Mol Cancer Res · 2013
0.60